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Hereditary angioedema in Japan: genetic analysis of 13 unrelated cases. 2012
Tetsuro Yamamoto, and
Takahiko Horiuchi, and
Hisaaki Miyahara, and
Shigeru Yoshizawa, and
Junichi Maehara, and
Eisuke Shono, and
Kazuto Takamura, and
Haruhisa Machida, and
Kaoru Tsujioka, and
Takehiko Kaneko, and
Naoki Uemura, and
Kenichi Suzawa, and
Norihiko Inagaki, and
Noriko Umegaki, and
Yoshihiro Kasamatsu, and
Akihito Hara, and
Yojiro Arinobu, and
Yasushi Inoue, and
Hiroaki Niiro, and
Yoichiro Kashiwagai, and
Shin-Ichi Harashima, and
Tomoko Tahira, and
Hiroshi Tsukamoto, and
Koichi Akashi
Yamamoto Clinic, Fukuoka, Japan.
BACKGROUND The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. METHODS The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. RESULTS Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. CONCLUSIONS The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.
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